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Aliases for CACNA1H Gene

Aliases for CACNA1H Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 H 2 3
  • Calcium Channel, Voltage-Dependent, T Type, Alpha 1H Subunit 2 3 5
  • Low-Voltage-Activated Calcium Channel Alpha1 3.2 Subunit 3 4
  • Voltage-Gated Calcium Channel Subunit Alpha Cav3.2 3 4
  • Calcium Channel, Voltage-Dependent, T Type, Alpha 1Hb Subunit 3
  • Voltage Dependent T-Type Calcium Channel Alpha-1H Subunit 3
  • Low-Voltage-Activated Calcium Channel Alpha13.2 Subunit 3
  • Voltage-Gated Calcium Channel Alpha Subunit Cav3.2 3
  • Voltage-Gated Calcium Channel Alpha Subunit CavT.2 3
  • CACNA1HB 3
  • Cav3.2 3
  • ECA6 3
  • EIG6 3

External Ids for CACNA1H Gene

Previous GeneCards Identifiers for CACNA1H Gene

  • GC16P001220
  • GC16P001144
  • GC16P001146
  • GC16P001147
  • GC16P001203

Summaries for CACNA1H Gene

Entrez Gene Summary for CACNA1H Gene

  • This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]

GeneCards Summary for CACNA1H Gene

CACNA1H (Calcium Voltage-Gated Channel Subunit Alpha1 H) is a Protein Coding gene. Diseases associated with CACNA1H include epilepsy, childhood absence 6 and childhood absence epilepsy. Among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Developmental Biology. GO annotations related to this gene include ion channel activity and low voltage-gated calcium channel activity. An important paralog of this gene is CACNA1G.

UniProtKB/Swiss-Prot for CACNA1H Gene

  • Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1H gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes.

Tocris Summary for CACNA1H Gene

  • Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.

Gene Wiki entry for CACNA1H Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1H Gene

Genomics for CACNA1H Gene

Regulatory Elements for CACNA1H Gene

Promoters for CACNA1H Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CACNA1H on UCSC Golden Path with GeneCards custom track

Genomic Location for CACNA1H Gene

Chromosome:
16
Start:
1,153,241 bp from pter
End:
1,221,772 bp from pter
Size:
68,532 bases
Orientation:
Plus strand

Genomic View for CACNA1H Gene

Genes around CACNA1H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA1H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA1H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1H Gene

Proteins for CACNA1H Gene

  • Protein details for CACNA1H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95180-CAC1H_HUMAN
    Recommended name:
    Voltage-dependent T-type calcium channel subunit alpha-1H
    Protein Accession:
    O95180
    Secondary Accessions:
    • B5ME00
    • F8WFD1
    • O95802
    • Q8WWI6
    • Q96QI6
    • Q96RZ9
    • Q9NYY4
    • Q9NYY5

    Protein attributes for CACNA1H Gene

    Size:
    2353 amino acids
    Molecular mass:
    259163 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK61268.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAC42094.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CACNA1H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA1H Gene

Proteomics data for CACNA1H Gene at MOPED

Post-translational modifications for CACNA1H Gene

  • In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.
  • Glycosylation at Asn 192, Asn 271, and Asn 1466
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNA1H Gene

Antibody Products

No data available for DME Specific Peptides for CACNA1H Gene

Domains & Families for CACNA1H Gene

Gene Families for CACNA1H Gene

Graphical View of Domain Structure for InterPro Entry

O95180

UniProtKB/Swiss-Prot:

CAC1H_HUMAN :
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1H subfamily.
Domain:
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1H subfamily.
genes like me logo Genes that share domains with CACNA1H: view

Function for CACNA1H Gene

Molecular function for CACNA1H Gene

GENATLAS Biochemistry:
calcium low voltage-activated (LVA) channel (VDCC),alpha 1H subunit,T (fast inactivation,small conductance) type,expressed in kidney,brain,heart
UniProtKB/Swiss-Prot Function:
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1H gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes.
genes like me logo Genes that share phenotypes with CACNA1H: view

Human Phenotype Ontology for CACNA1H Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNA1H Gene

MGI Knock Outs for CACNA1H:

Animal Model Products

  • Taconic Biosciences Mouse Models for CACNA1H

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for CACNA1H Gene

Localization for CACNA1H Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1H Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNA1H Gene COMPARTMENTS Subcellular localization image for CACNA1H gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CACNA1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CACNA1H: view

Pathways & Interactions for CACNA1H Gene

genes like me logo Genes that share pathways with CACNA1H: view

Pathways by source for CACNA1H Gene

Gene Ontology (GO) - Biological Process for CACNA1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9670923
GO:0006936 muscle contraction TAS 9670923
GO:0007411 axon guidance TAS --
GO:0007517 muscle organ development NAS 9670923
GO:0007520 myoblast fusion TAS 10861024
genes like me logo Genes that share ontologies with CACNA1H: view

No data available for SIGNOR curated interactions for CACNA1H Gene

Drugs & Compounds for CACNA1H Gene

(45) Drugs for CACNA1H Gene - From: IUPHAR, DGIdb, DrugBank, ApexBio, Novoseek, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zonisamide Approved, Investigational Pharma blocker, Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 65
Felodipine Approved, Investigational Pharma Potentiation, Activator, Target, inhibitor 22
Nitrendipine Approved Pharma Inhibition, Pore Blocker, Target, inhibitor Calcium channel blocker 5
Flunarizine Approved Pharma blocker, Target, inhibitor 5
Bepridil Approved, Withdrawn Pharma Pore Blocker, Target, inhibitor 0

(6) Additional Compounds for CACNA1H Gene - From: IUPHAR and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
kurtoxin
Channel blocker
SB209712
Channel blocker
(+-)-Bay K 8644
71145-03-4
(S)-(-)-Bay K 8644
98625-26-4
Flunarizine dihydrochloride
30484-77-6
genes like me logo Genes that share compounds with CACNA1H: view

Transcripts for CACNA1H Gene

Unigene Clusters for CACNA1H Gene

Calcium channel, voltage-dependent, T type, alpha 1H subunit:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1H Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: -
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:

ExUns: 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for CACNA1H Gene

GeneLoc Exon Structure for
CACNA1H
ECgene alternative splicing isoforms for
CACNA1H

Expression for CACNA1H Gene

mRNA expression in normal human tissues for CACNA1H Gene

mRNA differential expression in normal tissues according to GTEx for CACNA1H Gene

This gene is overexpressed in Colon - Sigmoid (x5.5), Esophagus - Muscularis (x4.9), and Esophagus - Gastroesophageal Junction (x4.7).

Protein differential expression in normal tissues from HIPED for CACNA1H Gene

This gene is overexpressed in Liver (54.3) and Breast (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNA1H Gene



SOURCE GeneReport for Unigene cluster for CACNA1H Gene Hs.459642

mRNA Expression by UniProt/SwissProt for CACNA1H Gene

O95180-CAC1H_HUMAN
Tissue specificity: Expressed in kidney, liver, heart, brain. Isoform 2 seems to be testis-specific.
genes like me logo Genes that share expression patterns with CACNA1H: view

Protein tissue co-expression partners for CACNA1H Gene

Primer Products

In Situ Assay Products

Orthologs for CACNA1H Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1H Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA1H 35
  • 90.58 (n)
  • 87.36 (a)
cow
(Bos Taurus)
Mammalia CACNA1H 36
  • 82 (a)
OneToOne
CACNA1H 35
  • 84.76 (n)
  • 84.65 (a)
dog
(Canis familiaris)
Mammalia CACNA1H 35
  • 85.58 (n)
  • 85.6 (a)
CACNA1H 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1h 16
Cacna1h 35
  • 83.21 (n)
  • 85.36 (a)
Cacna1h 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNA1H 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna1h 35
  • 83.08 (n)
  • 85.53 (a)
chicken
(Gallus gallus)
Aves CACNA1H 35
  • 73.33 (n)
  • 75.67 (a)
CACNA1H 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494894 35
  • 68.45 (n)
  • 71.09 (a)
zebrafish
(Danio rerio)
Actinopterygii cacna1ha 36
  • 61 (a)
OneToMany
cacna1hb 36
  • 62 (a)
OneToMany
LOC560875 35
  • 64.36 (n)
  • 64.32 (a)
worm
(Caenorhabditis elegans)
Secernentea cca-1 37
  • 58 (a)
cca-1 36
  • 46 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9858 35
Species with no ortholog for CACNA1H:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CACNA1H Gene

ENSEMBL:
Gene Tree for CACNA1H (if available)
TreeFam:
Gene Tree for CACNA1H (if available)

Paralogs for CACNA1H Gene

genes like me logo Genes that share paralogs with CACNA1H: view

Variants for CACNA1H Gene

Sequence variations from dbSNP and Humsavar for CACNA1H Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1075789 -- 1,185,314(-) CCCAC(A/G)CGTGT intron-variant
rs911397 -- 1,189,347(-) CTCCC(C/T)TTCCT intron-variant
rs1005453 -- 1,196,255(+) AGGGT(A/C)CCTGG intron-variant
rs744261 -- 1,157,766(-) CAAGG(C/G)ACAGC intron-variant
rs1054645 - 1,220,162(+) ACAGC(A/G)CTGCG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CACNA1H Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
nsv457315 CNV Gain 19166990
nsv471066 CNV Loss 18288195
nsv428316 CNV Gain+Loss 18775914
dgv2504n71 CNV Loss 21882294
dgv2505n71 CNV Loss 21882294
dgv2509n71 CNV Loss 21882294
dgv2511n71 CNV Loss 21882294
nsv471067 CNV Gain 18288195
dgv2514n71 CNV Loss 21882294
dgv2516n71 CNV Loss 21882294
dgv2518n71 CNV Loss 21882294
dgv2520n71 CNV Loss 21882294
nsv904937 CNV Gain 21882294
nsv904938 CNV Loss 21882294
dgv2521n71 CNV Gain 21882294
dgv2522n71 CNV Loss 21882294
dgv2523n71 CNV Loss 21882294
dgv2524n71 CNV Gain+Loss 21882294
nsv904948 CNV Gain 21882294
dgv2525n71 CNV Loss 21882294
nsv904950 CNV Loss 21882294
nsv457326 CNV Loss 19166990
nsv904954 CNV Loss 21882294
esv27714 CNV Loss 19812545
esv2037799 CNV Deletion 18987734
nsv904955 CNV Loss 21882294
esv25289 CNV Loss 19812545
esv2750298 CNV Deletion 23290073
esv1586925 CNV Insertion 17803354
esv1352926 CNV Insertion 17803354
esv1043406 CNV Insertion 17803354
esv2750299 CNV Deletion 23290073
dgv358e201 CNV Deletion 23290073
esv25233 CNV Loss 19812545
esv2663962 CNV Deletion 23128226
esv2750301 CNV Deletion 23290073
esv2750303 CNV Deletion 23290073
esv2750304 CNV Deletion 23290073
nsv7274 OTHER Inversion 18451855
nsv904956 CNV Gain 21882294
nsv904957 CNV Loss 21882294
dgv2526n71 CNV Loss 21882294
nsv827492 CNV Gain 20364138
nsv833117 CNV Loss 17160897

Variation tolerance for CACNA1H Gene

Residual Variation Intolerance Score: 26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.35; 92.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNA1H Gene

HapMap Linkage Disequilibrium report
CACNA1H
Human Gene Mutation Database (HGMD)
CACNA1H

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1H Gene

Disorders for CACNA1H Gene

MalaCards: The human disease database

(8) MalaCards diseases for CACNA1H Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, childhood absence 6
  • epilepsy, idiopathic generalized 6
childhood absence epilepsy
  • absence seizure
muscular dystrophy-dystroglycanopathy , type a, 9
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a9
idiopathic generalized epilepsy
  • generalised epilepsy
childhood electroclinical syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAC1H_HUMAN
  • Epilepsy, idiopathic generalized 6 (EIG6) [MIM:611942]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. {ECO:0000269 PubMed:15048902}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Epilepsy, childhood absence 6 (ECA6) [MIM:611942]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. {ECO:0000269 PubMed:12891677}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for CACNA1H

Genetic Association Database (GAD)
CACNA1H
Human Genome Epidemiology (HuGE) Navigator
CACNA1H
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNA1H
genes like me logo Genes that share disorders with CACNA1H: view

No data available for Genatlas for CACNA1H Gene

Publications for CACNA1H Gene

  1. Association between genetic variation of CACNA1H and childhood absence epilepsy. (PMID: 12891677) Chen Y. … Wu X. (Ann. Neurol. 2003) 3 4 23 48 67
  2. Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family. (PMID: 9670923) Cribbs L.L. … Perez-Reyes E. (Circ. Res. 1998) 2 3 23 25
  3. G protein-mediated inhibition of Cav3.2 T-type channels revisited. (PMID: 19903827) Perez-Reyes E. (Mol. Pharmacol. 2010) 3 23
  4. Zonisamide: a new drug for Parkinson's disease. (PMID: 20502722) Murata M. (Drugs Today 2010) 25 26
  5. Zonisamide in the treatment of epilepsy. (PMID: 20001433) Schulze-Bonhage A. (Expert Opin Pharmacother 2010) 25 26

Products for CACNA1H Gene

Sources for CACNA1H Gene

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